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Phenotypic Spectrum and Transcriptomic Profile Associated with Germline Variants in TRAF7

Laura Castilla-Vallmanya,Kaja K. Selmer,Clémantine Dimartino,Raquel Rabionet,Bernardo Blanco-Sánchez,Sandra Yang,Margot R. F. Reijnders, Antonie J. van Essen,Myriam Oufadem,Magnus D. Vigeland,Barbro Stadheim,Gunnar Houge,Helen Cox,Helen Kingston,Jill Clayton-Smith,Jeffrey W. Innis,Maria Iascone,Anna Cereda,Sara Gabbiadini,Wendy K. Chung,Victoria Sanders,Joel Charrow,Emily Bryant,John Millichap,Antonio Vitobello,Christel Thauvin,Frederic Tran Mau-Them,Laurence Faivre,Gaetan Lesca,Audrey Labalme,Christelle Rougeot,Nicolas Chatron,Damien Sanlaville,Katherine M. Christensen,Amelia Kirby,Raymond Lewandowski, Rachel Gannaway, Maha Aly,Anna Lehman,Lorne Clarke,Luitgard Graul-Neumann,Christiane Zweier,Davor Lessel,Bernarda Lozic,Ingvild Aukrust,Ryan Peretz,Robert Stratton,Thomas Smol,Anne Dieux-Coëslier,Joanna Meira,Elizabeth Wohler,Nara Sobreira,Erin M. Beaver,Jennifer Heeley,Lauren C. Briere,Frances A. High,David A. Sweetser,Melissa A. Walker,Catherine E. Keegan,Parul Jayakar,Marwan Shinawi,Wilhelmina S. Kerstjens-Frederikse,Dawn L. Earl,Victoria M. Siu,Emma Reesor,Tony Yao,Robert A. Hegele,Olena M. Vaske,Shannon Rego,Kevin A. Shapiro, Brian Wong,Michael J. Gambello,Marie McDonald,Danielle Karlowicz,Roberto Colombo,Alessandro Serretti,Lynn Pais,Anne O’Donnell-Luria, Alison Wray,Simon Sadedin,Belinda Chong,Tiong Y. Tan,John Christodoulou,Susan M. White,Anne Slavotinek,Deborah Barbouth,Dayna Morel Swols,Mélanie Parisot,Christine Bole-Feysot,Patrick Nitschké,Véronique Pingault,Arnold Munnich,Megan T. Cho,Valérie Cormier-Daire,Susanna Balcells,Stanislas Lyonnet,Daniel Grinberg,Jeanne Amiel,Roser Urreizti,Christopher T. Gordon

Genetics in Medicine（2020）

Cited 21|Views85
Key words
TRAF7,craniofacial development,intellectual disability,blepharophimosis,patent ductus arteriosus
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